NM_000492.3:c.3128T>G

HGVS Expressions

  • NG_016465.4:g.149875T>G
  • NM_000492.3:c.3128T>G
  • NP_000483.3:p.Leu1043Arg
  • NC_000007.14:g.117610658T>G
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219700.50Tunisia1NAUncertain SignificanceCystic FibrosisMessaoud et al. 2005
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